Current thinking on genotype screening

A friend of mine got married and had a child who came down with sickle cell crisis.

Since she was AA and her husband was AS, she could not understand what was happening to her baby. After lab tests initially showed her baby’s genotype to be SS, she and her husband took samples to other laboratories some of which returned conflicting results.

Experience has shown us that haemoglobin genotype screening tests commonly performed by Hb electrophoresis might not report accurate results in some cases. The test is cheap (about ₦600) and easily available but its drawbacks can be costly.

Haematologists (specialist doctors who deal with disorders of the blood) now advise partners who hope to tie the knot, to visit laboratories that rely on High Performance Liquid Chromatography (HPLC) and/or Isoelectric Focusing for genotype screening and confirmation. Genotype tests by these highly reliable techniques cost more than a dime, but the peace of mind is worth the coin (about ₦10,000).

Indeed, where electrophoresis in many cases might be called a qualitative test designed to show the PRESENCE of abnormal haemoglobins, HPLC can report both the presence and the QUANTITIES of most haemoglobin variants in a test sample of blood, hence can report more accurate results.

In other words, due to the challenges posed by electrophoretic methods of genotype screening, it is also beneficial to screen newborn babies with advanced techniques such as HPLC. Not screening newborn babies and counseling the parents of those with sickle cell disease can be extremely costly.

It is best to begin medical checkups early, long before the child begins to show symptoms. Many of the complications of sickle cell disease are preventable. A young man who knew he was SS neglected to attend sickle cell clinic. Ultimately he developed what we call Avascular Necrosis of the head of the femur (AVN) in both hips. Bilateral hip replacement cost him more than ₦2.6 million. We are not talking about the huge toll which the condition has taken on his health.

I lost a friend to sickle cell crisis. He was one of the most driven individuals I ever met. We all need to understand that sickle cell disease is not the death sentence it was decades ago.

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